Identification of PAHX, a Refsum disease gene

Basic local alignment search tool

1990 • 87,358 citations

The Metabolic and Molecular Bases of Inherited Disease

1995 • 12,086 citations

A novel genetic system to detect protein–protein interactions

1989 • 6,022 citations

Isolation of monoclonal antibodies specific for human c-myc proto-oncogene product.

1985 • 2,456 citations

An STS-Based Map of the Human Genome

1995 • 782 citations

A novel, cleavable peroxisomal targeting signal at the amino-terminus of the rat 3-ketoacyl-CoA thiolase.

1991 • 629 citations

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

1997 • 432 citations

Protein Import into Peroxisomes and Biogenesis of the Organelle

1993 • 411 citations

Disorders of peroxisome biogenesis

1995 • 289 citations

The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.

1996 • 184 citations

Structural analysis of cDNA for rat peroxisomal 3-ketoacyl-CoA thiolase.

1987 • 159 citations

Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders

1997 • 142 citations

Antibodies directed against the peroxisomal targeting signal of firefly luciferase recognize multiple mammalian peroxisomal proteins.

1990 • 133 citations

Human dihydroxyacetonephosphate acyltransferase deficiency: A new peroxisomal disorder

1992 • 125 citations

Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders

1995 • 120 citations

Strand-separating conformational polymorphism analysis: Efficacy of detection of point mutations in the human ornithine δ-aminotransferase gene

1992 • 118 citations

Differential protein import deficiencies in human peroxisome assembly disorders.

1994 • 117 citations

Phytanic Acid alpha-oxidation in Rat Liver Peroxisomes. Production of alpha-hydroxyphytanoyl-CoA and Formate is Enhanced by Dioxygenase

1995 • 112 citations

Phytanic acid activation in rat liver peroxisomes is catalyzed by long-chain acyl-CoA synthetase

1996 • 62 citations

Cloning and Functional Expression of a Mammalian Gene for a Peroxisomal Sarcosine Oxidase

1997 • 61 citations

Polymerase Chain Reaction-based Cloning of Alkyl-dihydroxyacetonephosphate Synthase Complementary DNA from Guinea Pig Liver

1997 • 44 citations

Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family

1995 • 27 citations

A new peroxisomal disease with impaired phytanic and pipecolic acid oxidation

1993 • 26 citations